I am a lab-based neurochemist-cell biologist with expertise in protein chemistry and pharmacology. My research focuses on the dynamin family of proteins in the endocytosis of synaptic vesicles and in the molecular mechanisms of synaptic transmission in th
From Measurement To Management Of Inherited Neuromuscular Disorders
Funder
National Health and Medical Research Council
Funding Amount
$401,361.00
Summary
Neuromuscular disorders can damage muscle, motor neurone or nerves, causing progressive weakness, disability and poor quality of life. Three themes of research will improve treatment of the most common nerve disorder, Charcot-Marie-Tooth disease. The research will use state-of-the-art measurement tools, ensuring research translation through multicentre trials and best-practice guidelines. The goal is to reduce the burden on patient and society and promote excellence and innovation for nerve and ....Neuromuscular disorders can damage muscle, motor neurone or nerves, causing progressive weakness, disability and poor quality of life. Three themes of research will improve treatment of the most common nerve disorder, Charcot-Marie-Tooth disease. The research will use state-of-the-art measurement tools, ensuring research translation through multicentre trials and best-practice guidelines. The goal is to reduce the burden on patient and society and promote excellence and innovation for nerve and muscle research.Read moreRead less
Uncovering The Molecular Mechanisms Behind Charcot-Marie-Tooth Disease
Funder
National Health and Medical Research Council
Funding Amount
$320,967.00
Summary
Charcot-Marie-Tooth disease (or CMT) is one of the most common disorders of the nervous system, affecting the normal function of the limbs and causing lifelong disabilities. There is currently no cure for CMT. The aim of this research is to develop a new model of CMT, which will allow us to uncover novel information about how the disease develops. This research will provide a better understanding of the disease and therefore provide valuable insight for the future generation of therapeutics.
Gene Identification For Inherited Peripheral Neuropathies By Applying Next Generation Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$605,058.00
Summary
Our goal is to study the biology underlying the death of motor and sensory nerves by identifying novel genes causing Charcot-Marie-Tooth (CMT) neuropathy. Using massively parallel sequencing we will systematically analyse the novel DNA changes througout the genome in CMT families in which the underlying gene mutation is unknown. Discovery of genes causing inherited peripheral neuropathies will elucidate mechanisms causing neurodegeneration and lead to targeted therapeutic treatment strategies to ....Our goal is to study the biology underlying the death of motor and sensory nerves by identifying novel genes causing Charcot-Marie-Tooth (CMT) neuropathy. Using massively parallel sequencing we will systematically analyse the novel DNA changes througout the genome in CMT families in which the underlying gene mutation is unknown. Discovery of genes causing inherited peripheral neuropathies will elucidate mechanisms causing neurodegeneration and lead to targeted therapeutic treatment strategies to prevent the death of motor and sensory nerves.Read moreRead less
Discovering Genes For X-linked Charcot-Marie-Tooth Neuropathy
Funder
National Health and Medical Research Council
Funding Amount
$486,789.00
Summary
Our goal is to explore peripheral nerve degeneration by identifying the genes causing X-linked forms of Charcot-Marie-Tooth neuropathy. Using bioinformatic resources, next generation sequencing and state of-the-art microarray and mutation scannning technologies we will perform comprehensive systematic analysis of candidate genes on the X chromosome. Discovery of genes for this subset of inherited peripheral neuropathies will elucidate mechanisms causing neurodegeneration and lead to targeted the ....Our goal is to explore peripheral nerve degeneration by identifying the genes causing X-linked forms of Charcot-Marie-Tooth neuropathy. Using bioinformatic resources, next generation sequencing and state of-the-art microarray and mutation scannning technologies we will perform comprehensive systematic analysis of candidate genes on the X chromosome. Discovery of genes for this subset of inherited peripheral neuropathies will elucidate mechanisms causing neurodegeneration and lead to targeted therapeutic treatment strategies.Read moreRead less
Mitochondria are both the powerhouses and the poison cupboard of our cells. They have evolved from bacteria and still possess the ability to grow and divide. Unregulated mitochondrial division is seen in dying cells and in cells from patients with neurodegenerative diseases. We have identified new molecules involved in mitochondrial division and are investigating how they function in normal and unhealthy cells.
Novel Therapies And Diagnostic Tools In Neurogenetic Disorders
Funder
National Health and Medical Research Council
Funding Amount
$190,049.00
Summary
Friedreich ataxia, a life-shortening neurologic condition, has no proven treatment. This study will assess a medication called resveratrol in 60 individuals in centres in four Australian states. The second study will explore the effectiveness of an emerging imaging technique, high-resolution nerve ultrasound, in the diagnosis and monitoring of conditions that affect the nerves in childhood.
Cloning And Characterisation Of A Novel Developmental Gene Involved In Myelination.
Funder
National Health and Medical Research Council
Funding Amount
$150,880.00
Summary
This project aims to identify and characterise a novel human gene involved in the formation of different organs and tissues, with an essential role in nervous system development. One of the most interesting facts of life, emerging from the completion of the Human Genome Project, is that it is not the number of genes but rather their regulation that plays the major role in evolution and determines the differences between species. The development of a human being from conception to birth is among ....This project aims to identify and characterise a novel human gene involved in the formation of different organs and tissues, with an essential role in nervous system development. One of the most interesting facts of life, emerging from the completion of the Human Genome Project, is that it is not the number of genes but rather their regulation that plays the major role in evolution and determines the differences between species. The development of a human being from conception to birth is among the most complex processes, where fine regulation of the timing and site of gene expression is crucial. We have recently identified a novel disorder where a mutation in a single gene disrupts the development and function of the eyes, the skull, the nervous, and the endocrine systems. The most disabling manifestations of the disease result from involvement of the peripheral nervous system. This is due to the failure of affected individuals to produce myelin, the insulating material that enwraps nerve fibres and facilitates the rapid conduction of nerve impulses. The mutated gene, which the project aims to identify, is likely to be involved in regulating the expression of multiple other genes essential for the early stages of myelination, as well as for the development of other tissues. The disease gene has been localised to a small interval on the long arm of chromosome 18, which does not contain any known developmental genes, suggesting that the project will provide novel information on the molecular pathways governing normal human development. As a result, the study may have important implications for understanding the general pathogenesis of disorders of the peripheral nervous system, including its common forms which affect thousand of people worldwide.Read moreRead less